A456T (p.Ala456Thr) variant of RAG2 (P55895)
A456T (p.Ala456Thr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Histiocytic medullary reticulosis; Inborn error of immunity; Recombinase activat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A456T (p.Ala456Thr) variant details
- p.Ala456Thr
- rs1564995611
- ClinGen CA380140519
- ClinVar RCV000681599
- Ensembl rs1564995611
- Likely pathogenic
- Histiocytic medullary reticulosis; Inborn error of immunity; Recombinase activat
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.85
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Histiocytic medullary reticulosis; Inborn error of immunity; Rec)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available